Participate in Research

There are so many other ways you can become involved in advancing the research to help your child and all children affected by CDKL5.

CDKL5 International Registry & Database

The database was established in 2012 as a collaborative effort between researchers in Australia and the IFCR. The dataset aims to collect information from families on their child’s clinical presentation including developmental history, seizure presentation gross motor function, communication abilities, and other medical problems. It also aims to collect information from families on clinical management including seizure control and use of therapies, and the impact having a child with the CKDL5 disorder has on the family. This is a questionnaire based research activity, and it will be useful for multiple research purposes. To read more and start your questionnaire, visit our International Registry & Database page.

CDKL5 Centers of Excellence

Centers of Excellence are the only multidisciplinary clinics for the treatment of people, a majority of whom are children, with CDKL5 . We currently have three Centers of Excellence in the United States: Children’s Hospital Colorado, Boston Children’s Hospital, and the Cleveland Clinic

IFCR’s vision in establishing these centers is to foster physician expertise in CDKL5 and thereby establishing diagnostic, therapeutic and preventative standards of care. These CDKL5 centers will also be centers for future clinical research studies. Plans are underway to open CDKL5 Centers of Excellence regionally around the United States, and eventually at sites around the world.

REN Database

The IFCR is proud to partner with The Rare Epilepsy Network (REN), a collaboration between IFCR, the Epilepsy Foundation, RTI International, Columbia University, New York University, and many different organizations that represent patients with a rare syndrome or disorder that is associated with epilepsy or seizures. This is a Patient-Centered Outcomes Research Study (PCORI) and was funded by a grant of nearly $1 million dollars, awarded to the Epilepsy Foundation in 2013. To learn more and participate, please visit our REN Database page.

University of Minnesota

The IFCR is collaborating with the University of Minnesota who is conducting two related studies that can be completed at home. These studies will not cost you anything, except for a small time commitment.

The first is a saliva collection study. In this study, researchers are looking at cortisol, which is a hormone that is involved in the body’s stress response system. In most healthy individuals, cortisol is produced following a very reliable pattern – it is highest in the morning, because it helps us become alert and get ready for the day, and it declines to very low levels by bedtime. Because of the frequent reports of anxiety among individuals with CDKL5 and Rett Syndrome, researchers are interested in learning more about whether we see the same patterns in individuals with CDKL5 and related syndromes. To answer this question, the researchers ask parents to collect saliva using a simple collection kit that they can mail out to you. You would need to collect saliva 4 times per day (30 minutes after wake, mid-morning, mid-afternoon, and 30 minutes before bed) on two different days. You would then mail the samples back to University of Minnesota researchers. The swab of the mouth is very simple and easy to collect.

The other study involves completing questionnaires about your child’s health, communication, pain, and behavior, as well as some information about your family. This information helps the researchers to better understand the differences we might see in cortisol patterns, and understand how caring for an individual with CDKL5 affects families and caregivers. It is expected that it would take approximately 45 minutes to complete these questionnaires.

Families can contact Breanne Byiers by email at byier001@umn.edu to request the saliva kits or phone at 612-626-7110 if they’re interested or have any questions.